Biomedical Laboratory techniques

Structure and function of DNA From DNA to proteins: transcription, RNA splicing, the genetic code, translation. Organization of the human genome Genes and gene mutations Origin of mutations: point mutations, deletions, insertions, splice-site mutations, dynamic mutations. Human chromosomes: number, structure, and function. Chromosomal abnormalities Normal and pathological human karyotype Relationships among gametogenesis, meiosis, and segregation Mendelian inheritance Heritable trait, gene, allele, locus Mendel’s laws: dominance and recessiveness; phenotype and genotype. Pedigree analysis: symbols and notation. Model of Transmission of Mendelian traits Classification of genetic diseases Examples of monogenic disorders with Mendelian transmission: autosomal dominant, autosomal recessive, X-linked dominant, X-linked recessive. Non-Mendelian inheritance

Biologia e Genetica N A. Campbell e J B. Reece:. Pearson Elementi di biologia e genetica. William K. Purves, David Sadava, Gordon H. Orians, H. Craig Heller: Ed Zanichelli Genetica umana e medica (Neri, Genuardi) Ed. Elsevier Masson